Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Bardet-Biedl syndrome 16

Bardet-Biedl syndrome 16 is an autosomal recessive disorder caused by mutations in the SDCCAG8 gene.

Systematic

Bardet-Biedl syndrome
Bardet-Biedl syndrome 01
Bardet-Biedl syndrome 02
Bardet-Biedl syndrome 03
Bardet-Biedl syndrome 04
Bardet-Biedl syndrome 05
Bardet-Biedl syndrome 06
Bardet-Biedl syndrome 07
Bardet-Biedl syndrome 08
Bardet-Biedl syndrome 09
Bardet-Biedl syndrome 10
Bardet-Biedl syndrome 11
Bardet-Biedl syndrome 12
Bardet-Biedl syndrome 13
Bardet-Biedl syndrome 14
Bardet-Biedl syndrome 15
Bardet-Biedl syndrome 16
SDCCAG8
Bardet-Biedl syndrome 17
Bardet-Biedl syndrome 18
Bardet-Biedl syndrome 19
Bardet-Biedl syndrome 20

References:

1.

Khanna H et al. (2009) A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

external link
2.

Chiang AP et al. (2004) Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

external link
3.

Ghadami M et al. (2000) Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

external link
4.

Young TL et al. (1998) Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

external link
5.

Laurier V et al. (2006) Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

external link
6.

Nishimura DY et al. (2001) Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

external link
7.

Sheffield VC et al. (1994) Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

external link
8.

Scheidecker S et al. (2014) Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).

external link
9.

Abu-Safieh L et al. (2012) In search of triallelism in Bardet-Biedl syndrome.

external link
10.

Janssen S et al. (2011) Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

external link
11.

Muller J et al. (2010) Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

external link
12.

Carmi R et al. (1995) Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15.

external link
13.

Shah AS et al. (2008) Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia.

external link
14.

Davis RE et al. (2007) A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

external link
15.

Tan PL et al. (2007) Loss of Bardet Biedl syndrome proteins causes defects in peripheral sensory innervation and function.

external link
16.

Ross AJ et al. (2005) Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates.

external link
17.

Moore SJ et al. (2005) Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

external link
18.

Kulaga HM et al. (2004) Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse.

external link
19.

Fan Y et al. (2004) Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

external link
20.

CICCARELLI EC et al. (1961) Laurence-Moon-Biedl syndrome. Report of an unusual family.

external link
21.

None (1956) Laurence-Moon-Biedl syndrome in an Arab boy: familial incidence.

external link
22.

Cox GF et al. (2003) Retinal function in carriers of Bardet-Biedl syndrome.

external link
23.

Stoetzel C et al. (2006) BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.

external link
24.

Billingsley G et al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

external link
25.

Otto EA et al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

external link
26.

Kim SK et al. (2010) Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

external link
27.

Xing DJ et al. (2014) Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

external link
28.

Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

external link
29.

Dulfer E et al. (2010) Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

external link
30.

Stoetzel C et al. (2007) Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

external link
31.

Putoux A et al. (2010) BBS10 mutations are common in 'Meckel'-type cystic kidneys.

external link
32.

Stoetzel C et al. (2006) BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

external link
33.

Nishimura DY et al. (2005) Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

external link
34.

Wang X et al. (2013) Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.

external link
35.

Ansley SJ et al. (2003) Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

external link
36.

Harville HM et al. (2010) Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

external link
37.

Badano JL et al. (2003) Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

external link
38.

Billingsley G et al. (2010) Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

external link
39.

Hjortshøj TD et al. (2008) Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients.

external link
40.

Young TL et al. (1999) A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

external link
41.

Iannaccone A et al. (2005) Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in the BBS4 gene.

external link
42.

Katsanis N et al. (2002) BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

external link
43.

Mykytyn K et al. (2001) Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

external link
44.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

external link
45.

None (1971) Familial translocation t(2p-; 17p+).

external link
46.

Alton DJ et al. (1973) Urographic findings in the Bardet-Biedl syndrome, formerly the Laurence-Moon-Biedl syndrome.

external link
47.

Harnett JD et al. (1988) The spectrum of renal disease in Laurence-Moon-Biedl syndrome.

external link
48.

Farag TI et al. (1988) Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population.

external link
49.

Green JS et al. (1989) The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

external link
50.

Farag TI et al. (1989) High incidence of Bardet Biedl syndrome among the Bedouin.

external link
51.

Croft JB et al. (1990) Obesity, hypertension, and renal disease in relatives of Bardet-Biedl syndrome sibs.

external link
52.

Gershoni-Baruch R et al. (1992) Cystic kidney dysplasia and polydactyly in 3 sibs with Bardet-Biedl syndrome.

external link
53.

Toledo SP et al. (1977) Evaluation of the hypothalamic-pituitary-gonadal function in the Bardet-Biedl syndrome.

external link
54.

Chanmugam D et al. (1977) The Laurence-Moon-Biedl syndrome in a Singhalese family.

external link
55.

Mykytyn K et al. (2002) Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

external link
56.

Kwitek-Black AE et al. (1993) Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity.

external link
57.

Slavotinek AM et al. (2000) Mutations in MKKS cause Bardet-Biedl syndrome.

external link
58.

Beales PL et al. (2001) Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

external link
59.

Katsanis N et al. (2001) Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

external link
60.

Katsanis N et al. (2000) Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

external link
61.

Li JB et al. (2004) Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

external link
62.

Chiang AP et al. (2006) Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

external link
63.

Carmi R et al. (1995) Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

external link
64.

Leppert M et al. (1994) Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

external link
65.

Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

external link
66.

Chang RJ et al. (1981) Hypogonadotropic hypogonadism associated with retinitis pigmentosa in a female sibship: evidence for gonadotropin deficiency.

external link
67.

Mykytyn K et al. (2003) Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

external link
68.

Katsanis N et al. (2001) Exploring the molecular basis of Bardet-Biedl syndrome.

external link
69.

Burghes AH et al. (2001) Genetics. The land between Mendelian and multifactorial inheritance.

external link
70.

Beales PL et al. (1999) New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

external link
71.

Lorda-Sanchez I et al. (2000) Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

external link
72.

Young TL et al. (1999) A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

external link
73.

Katsanis N et al. (1999) Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

external link
74.

David A et al. (1999) Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.

external link
75.

Woods MO et al. (1999) Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

external link
76.

Bruford EA et al. (1997) Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

external link
77.

Mehrotra N et al. (1997) Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome.

external link
78.

Beales PL et al. (1997) Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

external link
79.

Işlek I et al. (1996) Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.

external link
80.

Elbedour K et al. (1994) Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

external link
81.

Stoler JM et al. (1995) Genital abnormalities in females with Bardet-Biedl syndrome.

external link
82.

Croft JB et al. (1995) Obesity in heterozygous carriers of the gene for the Bardet-Biedl syndrome.

external link
83.

Haning RV et al. (1980) Virilism as a late manifestation in the Bardet-Biedl syndrome.

external link
84.

Pagon RA et al. (1982) Hepatic involvement in the Bardet-Biedl syndrome.

external link
85.

Schachat AP et al. (1982) Bardet-Biedl syndrome and related disorders.

external link
86.

Emberger JM et al. (1970) [Digito-palmar dermatoglyphics of a group of Tunisians].

external link
87.

OMIM.ORG article

Omim 615993 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits